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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

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Neurobiology of Huntington's Disease

Rebecca A G De Souza1, Blair R Leavitt

  • 1Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, Child and Family Research Institute, University of British Columbia, 950 West 28th Avenue, Room 2020, Vancouver, BC, V5Z 4H4, Canada.

Current Topics in Behavioral Neurosciences
|September 11, 2014
PubMed

Insights

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT) gene. This chapter reviews huntingtin protein function and potential mechanisms of neurodegeneration in HD.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Huntington's disease (HD) is a primary autosomal dominant neurodegenerative disorder.
  • Its inheritance patterns were recognized before the genetic basis of hereditary diseases was understood.
  • HD research has significantly advanced the understanding of human genetic disorders.

Purpose of the Study:

  • To provide an overview of the normal function of the huntingtin (HTT) protein.
  • To explore potential neurobiologic mechanisms underlying mutant HTT-mediated neurodegeneration in HD.

Main Methods:

  • Review of existing literature on Huntington's disease genetics and pathology.
  • Analysis of the trinucleotide (CAG) repeat expansion in the HTT gene.
  • Examination of studies on huntingtin protein function and dysfunction.

Main Results:

  • The causative mutation in HD is a CAG repeat expansion in the HTT gene.
  • Despite extensive research, the normal function of huntingtin remains incompletely understood.
  • Several potential mechanisms for mutant HTT-induced neurodegeneration have been proposed.

Conclusions:

  • Huntingtin protein's normal function is crucial for neuronal health.
  • Understanding these functions is key to elucidating HD pathogenesis.
  • Further research is needed to fully understand huntingtin's role and therapeutic targets in HD.

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